Canonical Allele Identifier: CA726581964

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 890789
• ClinVar RCV Id: RCV001125645 ; RCV001125646
• dbSNP Id: rs1312482683
• gnomAD v4: 17-17213316-G-A
• MyVariant Identifiers: chr17:g.17116630G>A (hg19) ; chr17:g.17213316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213316G>A , CM000679.2:g.17213316G>A	GRCh38
NC_000017.10:g.17116630G>A , CM000679.1:g.17116630G>A	GRCh37
NC_000017.9:g.17057355G>A	NCBI36
NG_008001.2:g.28873C>T , LRG_325:g.28873C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.*339C>T (FLCN) MANE Select	ENSP00000285071.4:n.*339C>T
ENST00000285071.8:c.*339C>T (FLCN)	ENSP00000285071.4:n.*339C>T
ENST00000427497.3:c.*372+1669C>T	ENSP00000394249.3:n.*372+1669C>T
ENST00000578209.5:c.562-4174G>A (MPRIP)
NM_144997.5:c.*339C>T , LRG_325t1:c.*339C>T (FLCN)	NP_659434.2:n.*339C>T
XM_011523714.1:c.*339C>T (FLCN)	XP_011522016.1:n.*339C>T
XM_011523715.1:c.*339C>T (FLCN)	XP_011522017.1:n.*339C>T
XM_011523716.1:c.*339C>T (FLCN)	XP_011522018.1:n.*339C>T
XM_011523717.1:c.*339C>T (FLCN)	XP_011522019.1:n.*339C>T
XM_011523718.1:c.*339C>T (FLCN)	XP_011522020.1:n.*339C>T
XM_011523719.1:c.1592+1669C>T (FLCN)	XP_011522021.1:n.1592+1669C>T
XM_011523720.1:c.*339C>T (FLCN)	XP_011522022.1:n.*339C>T
XM_011523721.1:c.*339C>T (FLCN)	XP_011522023.1:n.*339C>T
NM_001353229.1:c.*339C>T (FLCN)	NP_001340158.1:n.*339C>T
NM_001353230.1:c.*339C>T (FLCN)	NP_001340159.1:n.*339C>T
NM_001353231.1:c.*339C>T (FLCN)	NP_001340160.1:n.*339C>T
NM_144997.6:c.*339C>T (FLCN)	NP_659434.2:n.*339C>T
XM_011523719.3:c.1592+1669C>T (FLCN)	XP_011522021.1:n.1592+1669C>T
XM_017024309.2:c.*339C>T (FLCN)	XP_016879798.1:n.*339C>T
NM_144997.7:c.*339C>T (FLCN) MANE Select	NP_659434.2:n.*339C>T
NM_001353229.2:c.*339C>T (FLCN)	NP_001340158.1:n.*339C>T
NM_001353230.2:c.*339C>T (FLCN)	NP_001340159.1:n.*339C>T
NM_001353231.2:c.*339C>T (FLCN)	NP_001340160.1:n.*339C>T